Linked Data
dbSNP Id:
rs761202423
ExAC:
2:145147200 C / A
gnomAD v2:
2-145147200-C-A
gnomAD v4:
2-144389633-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144389633C>A , CM000664.2:g.144389633C>A | GRCh38 |
| NC_000002.11:g.145147200C>A , CM000664.1:g.145147200C>A | GRCh37 |
| NC_000002.10:g.144863670C>A | NCBI36 |
| NG_016431.1:g.135759G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*3312G>T | ENSP00000508434.1:n.*3312G>T | |
| ENST00000440875.6:c.2686G>T | ENSP00000475553.3:p.Asp896Tyr | |
| ENST00000627532.3:c.3463G>T MANE Select | ENSP00000487174.1:p.Asp1155Tyr | |
| ENST00000636026.2:c.3351G>T | ENSP00000490776.1:p.Arg1117Ser | |
| ENST00000636179.1:n.3432G>T | ||
| ENST00000636413.1:c.3127G>T | ENSP00000490508.1:p.Asp1043Tyr | |
| ENST00000636471.1:c.3538G>T | ENSP00000490317.1:p.Asp1180Tyr | |
| ENST00000636732.2:c.*3180G>T | ENSP00000490175.1:n.*3180G>T | |
| ENST00000636820.1:n.3563G>T | ||
| ENST00000637045.1:c.3127G>T | ENSP00000490141.1:p.Asp1043Tyr | |
| ENST00000637304.1:c.3127G>T | ENSP00000490872.1:p.Asp1043Tyr | |
| ENST00000638007.1:c.3127G>T | ENSP00000490723.1:p.Asp1043Tyr | |
| ENST00000638087.1:c.3127G>T | ENSP00000490673.1:p.Asp1043Tyr | |
| ENST00000638128.1:c.2686G>T | ENSP00000490934.1:p.Asp896Tyr | |
| ENST00000639389.1:c.151+6779G>T | ENSP00000492572.1:n.151+6779G>T | |
| ENST00000647488.1:c.683G>T | ENSP00000494820.1:n.683G>T | |
| ENST00000675069.1:c.994G>T | ENSP00000502467.1:p.Asp332Tyr | |
| ENST00000303660.8:c.3460G>T | ENSP00000302501.4:p.Asp1154Tyr | |
| ENST00000409487.7:c.3463G>T | ENSP00000386854.2:p.Asp1155Tyr | |
| ENST00000419938.5:c.656-751G>T | ENSP00000394777.2:n.656-751G>T | |
| ENST00000539609.7:c.3391G>T | ENSP00000443792.2:p.Asp1131Tyr | |
| ENST00000558170.6:c.3463G>T | ENSP00000454157.1:p.Asp1155Tyr | |
| ENST00000627532.2:c.3463G>T | ENSP00000487174.1:p.Asp1155Tyr | |
| NM_001171653.1:c.3391G>T | NP_001165124.1:p.Asp1131Tyr | |
| NM_014795.3:c.3463G>T | NP_055610.1:p.Asp1155Tyr | |
| XM_006712881.2:c.3463G>T | XP_006712944.1:p.Asp1155Tyr | |
| XM_006712882.2:c.3463G>T | XP_006712945.1:p.Asp1155Tyr | |
| XM_011512231.1:c.3454G>T | XP_011510533.1:p.Asp1152Tyr | |
| XM_011512232.1:c.3442G>T | XP_011510534.1:p.Asp1148Tyr | |
| NM_014795.4:c.3463G>T MANE Select | NP_055610.1:p.Asp1155Tyr | |
| NM_001171653.2:c.3391G>T | NP_001165124.1:p.Asp1131Tyr |